Analysis of clinical manifestations and genetic characteristics in families with ocular albinism_Chinese Journal of Ocular Fundus Diseases

Authors：

Li Hangyu ^1,2 , Zhang Lili ² , Gao Fengjuan ² ,  Zong Yuan ² , Huang Xin ² , Chang Qing ² , Zhang Ting ²

1. School of Health Science and Engineering, University of Shanghai for Science and Technology, Shanghai 200093, China;
2. Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China;

Corresponding?author：

Zong Yuan, Email: zongyuan326@163.com

Keywords：

Ocular Albinism; GPR143 Gene; Gene mutation; Phenotypic heterogeneity; Female carriers

DOI：

10.3760/cma.j.cn511434-20251126-00529

Video：

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Objective To observe and analyze the clinical and genotypic characteristics of patients with X-linked ocular albinism type 1 (OA1) and their female carriers. Methods A retrospective clinical study. Five unrelated families (all male) with OA1 diagnosed through genetic testing and treated at Eye & ENT Hospital of Fudan University from January 2021 to November 2025 were included. A total of 5 probands and 3 female carriers were involved. Information on the medical history and family history of all participants was collected. Four probands and 3 female carriers underwent best corrected visual acuity (BCVA), slit lamp microscopy, fundus autofluorescence, fundus color photography, and optical coherence tomography examinations. Peripheral venous blood was collected from all participants, and whole genome DNA was extracted for whole-exome sequencing to identify potential pathogenic loci, followed by pathogenicity analysis and Sanger sequencing verification. According to the relevant guidelines of the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the newly discovered genetic variations was evaluated. Results All five probands were male, and their ages at the time of consultation ranged from 3 months to 18 years. All probands presented with bilateral nystagmus, with BCVA ranging from 0.1 to 0.3. Ocular examination revealed mild iris pigment distribution abnormalities in 2 cases, varying degrees of choroidal vascular exposure and mild to moderate retinal pigment loss in 3 cases; foveal hypoplasia in 3 cases, with grades ranging from Ⅲ to Ⅳ. Typical "muddy-splashed" fundus pattern could be observed from the mid-periphery to the periphery of the retina in the fundus of 3 female carriers. A total of 5 GPR143 gene variations highly correlated with the phenotype were identified through genetic testing, including 3 deletion variations (exon 1-9, exon 1, exon 2-3 deletion) and 2 nonsense variations (c.278T>A, c.333G>A). Among them, the proband in family 1 carried a hemizygous nonsense variation of GPR143 gene exon 2 c.278T>A (p.Leu93^*). According to the ACMG guidelines, this variation meets the extremely strong evidence of pathogenicity (PVS1), and has not been reported in the gnomAD database, representing a novel variant with no previous literature reports (PM2_Supporting). The overall assessment was that it was a likely pathogenic variant. Conclusions The clinical phenotype of OA1 shows a high degree of heterogeneity. Nystagmus, foveal hypoplasia, and the characteristic "mud-splattered" fundus pattern in female carriers are important clinical diagnostic clues, but genetic testing remains the gold standard for diagnosing this disease.

Citation： Li Hangyu, Zhang Lili, Gao Fengjuan, Zong Yuan, Huang Xin, Chang Qing, Zhang Ting. Analysis of clinical manifestations and genetic characteristics in families with ocular albinism. Chinese Journal of Ocular Fundus Diseases, 2026, 42(9): 772-778. doi: 10.3760/cma.j.cn511434-20251126-00529 Copy

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1. Oetting WS. New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene[J]. Hum Mutat, 2002, 19(2): 85-92. DOI: 10.1002/humu.10034.
2. Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome[J]. Nat Genet, 1995, 10(1): 13-19. DOI: 10.1038/ng0595-13.
3. Liu S, Kuht HJ, Moon EH, et al. Current and emerging treatments for albinism[J]. Surv Ophthalmol, 2021, 66(2): 362-377. DOI: 10.1016/j.survophthal.2020.10.007.
4. McKay BS. Pigmentation and vision: is GPR143 in control?[J]. J Neurosci Res, 2019, 97(1): 77-87. DOI: 10.1002/jnr.24246.
5. Zou X, Li H, Yang L, et al. Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism[J/OL]. Sci Rep, 2017, 7: 33713[2017-02-17]. https://pubmed.ncbi.nlm.nih.gov/28211458/. DOI: 10.1038/srep33713.
6. Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, et al. Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism[J]. Int Ophthalmol, 2014, 34(5): 1075-1081. DOI: 10.1007/s10792-014-9912-1.
7. Carden S, Boissy RE, Schoettker PJ, et al. Albinism: modern molecular diagnosis[J]. Br J Ophthalmol, 1998, 82(2): 189-195. DOI: 10.1136/bjo.82.2.189.
8. Hwang S, Jeon S, Yoon JM, et al. Retinitis pigmentosa GTPase regulator-associated X-linked retinitis pigmentosa: molecular genetics and clinical characteristics[J]. Am J Ophthalmol, 2025, 274: 171-183. DOI: 10.1016/j.ajo.2025.03.001.
9. Huang YH, Huang YS, Lin CY, et al. The exponential constriction model of the ellipsoid zone in Taiwanese individuals with RPGR-related X-linked retinitis pigmentosa[J/OL]. Invest Ophthalmol Vis Sci, 2025, 66(4): 59[2025-04-01]. https://pubmed.ncbi.nlm.nih.gov/40257782/. DOI: 10.1167/iovs.66.4.59.
10. Gocuk SA, Jolly JK, Edwards TL, et al. Female carriers of X-linked inherited retinal diseases genetics, diagnosis, and potential therapies[J/OL]. Prog Retin Eye Res, 2023, 96: 101190[2023-07-03]. https://pubmed.ncbi.nlm.nih.gov/37406879/. DOI: 10.1016/j.preteyeres.2023.101190.
11. Kurata K, Hosono K, Hayashi T, et al. X-linked retinitis pigmentosa in Japan: clinical and genetic findings in male patients and female carriers[J/OL]. Int J Mol Sci, 2019, 20(6): 1518[2019-03-26]. https://pubmed.ncbi.nlm.nih.gov/30917587/. DOI: 10.3390/ijms20061518.
12. Kuruvilla SE, Song E, Raoof N, et al. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations[J]. Clin Exp Ophthalmol, 2023, 51(4): 300-312. DOI: 10.1111/ceo.14220.
13. Flynn E, Cheela I, Kaden TR. Female carrier of ocular albinism linked to Gpr143 gene[J/OL]. J Vitreoretin Dis, 2025: 24741264251386389[2025-10-31]. https://pubmed.ncbi.nlm.nih.gov/41180145/. DOI: 10.1177/24741264251386389.
14. Nanda T, Coombs A, Shi A, et al. Macular findings in carriers of ocular albinism with a novel GPR143 mutation[J]. Ophthalmic Surg Lasers Imaging Retina, 2022, 53(8): 460-463. DOI: 10.3928/23258160-20220713-03.
15. Comander J, Weigel-DiFranco C, Sandberg MA, et al. Visual function in carriers of X-linked retinitis pigmentosa[J]. Ophthalmology, 2015, 122(9): 1899-1906. DOI: 10.1016/j.ophtha.2015.05.039.
16. Thomas MG, Kumar A, Mohammad S, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography: a predictor of visual acuity?[J]. Ophthalmology, 2011, 118(8): 1653-1660. DOI: 10.1016/j.ophtha.2011.01.028.
17. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology[J]. Genet Med, 2015, 17(5): 405-424. DOI: 10.1038/gim.2015.30.
18. Gleason S, Bass SJ. Case series: fundus autofluorescence abnormalities in a family of ocular albinism carriers[J]. Optom Vis Sci, 2024, 101(2): 117-123. DOI: 10.1097/OPX.0000000000002106.
19. Schlottmann PG, Luna JD, Labat N, et al. Nationwide genetic analysis of more than 600 families with inherited eye diseases in argentina[J/OL]. NPJ Genom Med, 2023, 8(1): 8[2023-05-22]. https://pubmed.ncbi.nlm.nih.gov/37217489/. DOI: 10.1038/s41525-023-00352-1.
20. Tijmes NT, Bergen AB, De Jong PT. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene[J]. Br J Ophthalmol, 1998, 82(4): 457-458. DOI: 10.1136/bjo.82.4.456b.
21. Lasseaux E, Plaisant C, Michaud V. Molecular characterization of a series of 990 index patients with albinism[J]. Pigment Cell Melanoma Res, 2018, 31(4): 466-474. DOI: 10.1111/pcmr.12688.
22. Moon D, Park HW, Surl D, et al. Precision medicine through next-generation sequencing in inherited eye diseases in a Korean cohort[J/OL]. Genes, 2021, 13(1): 27[2021-12-23]. https://pubmed.ncbi.nlm.nih.gov/35052368/. DOI: 10.3390/genes13010027.
23. Bassi MT, Bergen AA, Bitoun P, et al. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America[J]. Hum Genet, 2001, 108(1): 51-54. DOI: 10.1007/s004390000440.
24. Schnur RE, Gao M, Wick PA, et al. OA1 mutations and deletions in X-linked ocular albinism[J]. Am J Hum Genet, 1998, 62(4): 800-809. DOI: 10.1086/301776.
25. Han R, Wang X, Wang D, et al. GPR143 gene mutations in five Chinese families with X-linked congenital nystagmus[J/OL]. Sci Rep, 2015, 5: 12031[2015-07-10]. https://pubmed.ncbi.nlm.nih.gov/26160353/. DOI: 10.1038/srep12031.
26. Jia X, Yuan J, Jia X, et al. GPR143 mutations in Chinese patients with ocular albinism type1[J]. Mol Med Rep, 2017, 15(5): 3069-3075. DOI: 10.3892/mmr.2017.6366.
27. Preising MN, Forster H, Gonser M, et al. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism[J]. Mol Vis, 2011, 17: 939-948.
28. Xiong HY, Alipanahi B, Lee LJ, et al. The human splicing code reveals new insights into the genetic determinants of disease[J/OL]. Science, 2015, 347(6218): 1254806[2015-01-09]. https://pubmed.ncbi.nlm.nih.gov/25525159/. DOI: 10.1126/science.1254806.
29. Fang S, Guo X, Jia X, et al. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism[J]. Mol Vis, 2008, 14: 1974-1982.
30. Zhong J, You B, Xu K, et al. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism[J]. Ophthalmic Genet, 2021, 42(6): 717-724. DOI: 10.1080/13816810.2021.1958352.
31. Chen S, Yi Z, Zheng Y, et al. Pigmentation pattern of iris and fundus in 75 Chinese families with GPR143-associated ocular albinism[J/OL]. Invest Ophthalmol Vis Sci, 2025, 66(12): 69[2025-09-02]. https://pubmed.ncbi.nlm.nih.gov/41025874/. DOI: 10.1167/iovs.66.12.69.
32. Xiao X, Zhang Q. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation[J]. Am J Med Genet A, 2009, 149A(8): 1786-1788. DOI: 10.1002/ajmg.a.32818.
33. Bueschbell B, Manga P, Schiedel AC. The many faces of G protein-coupled receptor 143, an atypical intracellular receptor[J/OL]. Front Mol Biosci, 2022, 9: 873777[2022-04-12]. https://pubmed.ncbi.nlm.nih.gov/35495622/. DOI: 10.3389/fmolb.2022.873777.
34. Bakker R, Wagstaff EL, Kruijt CC, et al. The retinal pigmentation pathway in human albinism: not so black and white[J/OL]. Prog Retin Eye Res, 2022, 91: 101091[2022-07-18]. https://pubmed.ncbi.nlm.nih.gov/35729001/. DOI: 10.1016/j.preteyeres.2022.101091.
35. Rymer J, Choh V, Bharadwaj S, et al. The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism[J]. Exp Eye Res, 2007, 85(4): 431-442. DOI: 10.1016/j.exer.2007.06.010.
36. Jiang L, Zhang S, Chen R, et al. Effects of the tyrosinase-dependent dopaminergic system on refractive error development in guinea pigs[J]. Invest Ophthalmol Vis Sci, 2018, 59(11): 4631-4638. DOI: 10.1167/iovs.17-22315.
37. Kessel L, Kj?lholm CDB, Jordana JT. Does foveal hypoplasia affect emmetropization in patients with albinism?[J/OL]. Children (Basel), 2023, 10(12): 1910[2023-12-11]. https://pubmed.ncbi.nlm.nih.gov/38136112/. DOI: 10.3390/children10121910.
38. Preising M, Op de Laak JP, Lorenz B. Deletion in the OA1 gene in a family with congenital X linked nystagmus[J]. Br J Ophthalmol, 2001, 85(9): 1098-1103. DOI: 10.1136/bjo.85.9.1098.
39. Verkicharla P, Thakur S, Kammari P, et al. Refractive development in individuals with ocular and oculocutaneous albinism[J]. Int Ophthalmol, 2022, 42(7): 2007-2015. DOI: 10.1007/s10792-021-02165-6.
40. Williams KM, Georgiou M, Kalitzeos A, et al. Axial length distributions in patients with genetically confirmed inherited retinal diseases[J/OL]. Invest Ophthalmol Vis Sci, 2022, 63(6): 15[2022-06-01]. https://pubmed.ncbi.nlm.nih.gov/35704304/. DOI: 10.1167/iovs.63.6.15.
41. Yan N, Liao X, Cai SP, et al. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism[J/OL]. PLoS One, 2012, 7(8): e43177[2012-08-20]. https://pubmed.ncbi.nlm.nih.gov/22916221/. DOI: 10.1371/journal.pone.0043177.
42. Paavo M, Zhao J, Kim HJ, et al. Mutations in GPR143/OA1 and ABCA4 inform interpretations of short-wavelength and near-infrared fundus autofluorescence[J]. Invest Ophthalmol Vis Sci, 2018, 59(6): 2459-2469. DOI: 10.1167/iovs.18-24213.
43. Jiang J, Yang L, Li H, et al. Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations[J/OL]. Exp Eye Res, 2019, 189: 107819[2019-09-28]. https://pubmed.ncbi.nlm.nih.gov/31574285/. DOI: 10.1016/j.exer.2019.107819.
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Chinese Journal of Ocular Fundus Diseases

Analysis of clinical manifestations and genetic characteristics in families with ocular albinism

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